A3V (p.Ala3Val) variant of DNMT1 (P26358)
A3V (p.Ala3Val) in DNMT1 (P26358) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
A3V (p.Ala3Val) variant details
- p.Ala3Val
- ExAC rs760288360
- TOPMed rs760288360
- gnomAD rs760288360
- Missense
- Variant Prioritization Score for Impact Estimate 0.43
- REVEL 0.14
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available